HEMOPHILIA

Some Cuts Can Go a Long Way

HEMOPHILIA

Some Cuts Can Go a Long Way

What is Hemophilia?

Hemophilia is a genetic disease, meaning it gets passed down from generations before you. It is caused by a defect in a person's genes that specializes in blood clotting. When you get a cut or wound, blood cells called platelets clump together to stop the bleeding. This process is referred to as platelets adhesive. In the beginning of this system, the platelets release a chemical that attracts proteins and clotting factors. The clotting factors help in the formation of a string of proteins called a fibrin. Many strands of these fibrin are created, and once joined together form a net to keep the platelets in place. In someone with Hemophilia, one of the clotting factors is defective or missing, causing blood clot to be soft making it prone to coming apart. Overall, while a person without Hemophilia can stop the bleeding in 10-15 minutes, a person with the disease can take twice as long.

MORE ABOUT CLOTTING FACTORS

There are many different of clotting factors, each one having a variety of effects if defective in Hemophilia. Some factors include factor VIII, VonWillebrandfactor, and factor IX. Factor VIII is usually made in the liver and kidney. It lasts for about 12 hours before being broken down into the body. However, this factor is very "rowdy", and needs Von Willebrand factor to prevent it from breaking down to soon. The Von Willebrand factor circulates in the blood in order to do this. Another job it has is to concentrate factor VIII at places where damage has been done to the body. Factor IX doesn't really mess around with these two, and likes to spend lots of time with himself. It is created in the liver, and right away needs vitamin K to function. Factor IX lasts about 24 hours before being broken down. However, though these factors seem sweet and innocent, when faulty, can cause lots of damage. If factor VIII is lacking or missing, the victim will have Hemophilia type A, which is the most common as 85% of Hemophilia people have it. However, if factor IX is lacking or missing, the person will be titled with Hemophilia type B.

Types of Hemophilia

MILD

People with mild Hemophilia tend to only experience unnatural bleeding after serious injuries, trauma or surgery. In most cases, this type is not diagnosed until a major wound or anything over the top. The first bleeding episode occurs most of the time during adulthood. With mild Hemophilia, you have 6% to 49% Factor VIII in the blood.

MODERATE

People with moderate Hemophilia usually experience major bleeding after injuries. In some cases, unnecessary bleeding happens which is called spontaneous bleeding. With moderate Hemophilia, you have 1% to 5% of Factor VIII.

SEVERE

People with severe Hemophilia experience spontaneous bleeding from the smallest scrapes and cuts. Bleeding can happen in the joints and muscles. A few times month, a person with this type can have bleeding episodes without undergoing treatment. With severe Hemophilia, you have less than 1% of Factor VIII.

MILD

People with mild Hemophilia tend to only experience unnatural bleeding after serious injuries, trauma or surgery. In most cases, this type is not diagnosed until a major wound or anything over the top. The first bleeding episode occurs most of the time during adulthood. With mild Hemophilia, you have 6% to 49% Factor VIII in the blood.

MODERATE

People with moderate Hemophilia usually experience major bleeding after injuries. In some cases, unnecessary bleeding happens which is called spontaneous bleeding. With moderate Hemophilia, you have 1% to 5% of Factor VIII.

SEVERE

People with severe Hemophilia experience spontaneous bleeding from the smallest scrapes and cuts. Bleeding can happen in the joints and muscles. A few times month, a person with this type can have bleeding episodes without undergoing treatment. With severe Hemophilia, you have less than 1% of Factor VIII.

THE GENETICS AND DNA

Genetic information gets passed down from parent to offspring through the chromosomes in the nuclei of a cell. Your chromosomes are made of protein and deoxyribonucleic acid (DNA.) Genes are sequences of DNA located specifically in chromosomes, you can say that they are like blueprints for your production of proteins. Almost every cell in your body has a copy of two chromosomes, one from your mom and the another from your dad. Sperm and eggs cell only have one of the copy(either X or Y.) The process at which these types of cells are created is called meiosis. The pair of chromosomes are copied (now you have four separate chromosomes), then lined up at the end of the nucleus. The cell proceeds to divide itself twice, leaving each brand new egg or sperm cell to have only one half of the pair of chromosomes. When sperm and egg join to form an embryo, it receives each half of the pair of chromosomes. If the embryo gets XX its gender is female, however if it gets XY the gender is male. Sometimes one gene that makes of the chromosomes has an error in sequence, which causes it to work improperly. In Hemophilia cases, this can result in the body unable to produce one of the clotting factors. Luckily, this type of gene only occurs if the parent already harvests it. On other rare occasion, a mutation can cause a failure. The numbers tell us that 2/3 of all Hemophilia people got the disease from there parents, the other 1/3 is from mutations.

WHO GETS HEMOPHILIA?

Hemophilia is more common in boys than in girls because the defective gene is located in the X chromosomes. Boy's chromosome pair is XY, while girl's is XX. Children automatically receive an X from there mother, but either an X or Y from the father. The gene for Hemophilia is known as the X-recessive gene. Males often get this disease because if they get an X chromosomes which already harbors the defective gene, then the disease is already inside him. If a female collects a Hemophilia infected gene in the X, but also gets a healthy X, she will not experience the disease but be a carrier for future generations to come. In conclusion a girl can only get Hemophilia if she receives a defective chromosome from both parents. If the carrier becomes pregnant, there is a 50% chance the son will inhabit Hemophilia, and a 50% chance of the daughter becoming a carrier.

NOTE FROM THE AUTHOR

Hemophilia is rarely recognized by many people as a serious disease and worth awareness about. However, I think it should be taken into consideration that this genetic disorder is quite harmful. Blood is vital in human life, but if you lose to much that could mean the end. People who have Hemophilia have to be careful about what they touch, and what activities that participate in. Though it may seem like a small number, nearly 400 babies are born with Hemophilia each year. And since they disease gets passed down from your ancestors, there is really now way to stop the growth. There is treatment for this condition, but no actual cure. Imagine what life would be like, with no risk and dare, trapped behind the impenetrable walls of Hemophilia.

GLOSSARY

Gene-unit of heredity which is transferred from parent to offspring and is held to determine some characteristics of the child.

Platelets-small colorless cell fragment without a nucleus, and is found in large numbers in blood and involved blood clotting.

Protein-any class of organic compounds which are a large of part of a living organisms.

Fibrin-a string of protein used to hold platelets in place during blood clotting

Von Willebrand Factor-named after a disease (Von Willebrand's disease) which also affects a certain clotting factor, but is not linked to the X chromosomes and can occur in both gender just as frequently.

Circulate-to move continuously in a place or system.

Vitamin-any group of organic compounds that is necessary to human growth and nutrition.

Chromosomes-threadlike structure that are found in the nucleus of a cell that carry genetic information.

DNA-the carrier of genetic information found in chromosomes.

Nucleus-an organelle that is present in most eukaryotic cells that contains the genetic material.

Embryo-unborn offspring in the process of development.

Mutation-the changing in a structured gene, usually resulting in a improper function of a cell's job.

Recessive-heritable gene that only express themselves when the two parents already acquired it, or is not overpowered by a dominant gene.